RGD Reference Report - Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma. - Rat Genome Database

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Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma.

Authors: Gao, L  Grant, AV  Rafaels, N  Stockton-Porter, M  Watkins, T  Gao, P  Chi, P  Munoz, M  Watson, H  Dunston, G  Togias, A  Hansel, N  Sevransky, J  Maloney, JP  Moss, M  Shanholtz, C  Brower, R  Garcia, JG  Grigoryev, DN  Cheadle, C  Beaty, TH  Mathias, RA  Barnes, KC 
Citation: Gao L, etal., J Allergy Clin Immunol. 2007 May;119(5):1111-8.
RGD ID: 4891492
Pubmed: PMID:17472811   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jaci.2007.03.019   (Journal Full-text)

BACKGROUND: Myosin light chain kinase (MYLK) is a multifunctional protein involved in regulation of airway hyperreactivity and other activities relevant to asthma. OBJECTIVE: To determine the role of MYLK gene variants in asthma among African Caribbean and African American populations. METHODS: We performed association tests between single nucleotide polymorphisms (SNPs) in the MYLK gene and asthma susceptibility and total serum IgE concentrations in 2 independent, family-based populations of African descent. Previously we identified variants/haplotypes in MYLK that confer risk for sepsis and acute lung injury; we compared findings from our asthma populations to findings in the African American sepsis and acute lung injury groups. RESULTS: Significant associations between MYLK SNPs and asthma and total serum IgE concentrations were observed in the African Caribbean families: a promoter SNP (rs936170) in the smooth muscle form gave the strongest association (P = .009). A haplotype including rs936170 corresponding to the actin-binding activity of the nonmuscle and smooth muscle forms was negatively associated with asthma (eg, decreased risk) in both the American (P = .005) and Caribbean families (P = .004), and was the same haplotype that conferred risk for severe sepsis (P = .002). RNA expression studies on PBMCs and rs936170 suggested a significant decrease in MYLK expression among patients with asthma with this variant (P = .025). CONCLUSION: MYLK polymorphisms may function as a common genetic factor in clinically distinct diseases involving bronchial smooth muscle contraction and inflammation. CLINICAL IMPLICATIONS: Genetic variants in MYLK are significantly associated with both asthma and sepsis in populations of African ancestry.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma  IAGP 4891492 RGD 
asthma  ISOMYLK (Homo sapiens)4891492; 4891492 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mylk  (myosin light chain kinase)

Genes (Mus musculus)
Mylk  (myosin, light polypeptide kinase)

Genes (Homo sapiens)
MYLK  (myosin light chain kinase)


Additional Information